The incidence and possible relevance of Y-linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers

Molecular Human Reproduction

Volumn 2, Issue 12, 1996, Pages 943-950

  Kent First, M G ^a   Kol, S ^b   Muallem, A ^a   Ofir, R ^b   Manor, D ^b   Blazer, S ^b   First, N ^c   Itskovitz Eldor, J ^b  

^a PROMEGA CORPORATION   (United States)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

Aetiology; Intracytoplasmic sperm injection; Y chromosome microdeletions

Indexed keywords

ADULT; ARTICLE; CASE CONTROL STUDY; CHROMOSOME DELETION; CHROMOSOME MAP; CYTOPLASM; FEMALE; FERTILIZATION IN VITRO; GENETIC LINKAGE; GENETICS; HUMAN; MALE; MALE INFERTILITY; METHODOLOGY; MICROINJECTION; MOSAICISM; NEWBORN; SEQUENCE TAGGED SITE; SPERMATOZOON; Y CHROMOSOME;

ADULT; CASE-CONTROL STUDIES; CHROMOSOME DELETION; CHROMOSOME MAPPING; CYTOPLASM; FEMALE; FERTILIZATION IN VITRO; HUMANS; INFANT, NEWBORN; INFERTILITY, MALE; LINKAGE (GENETICS); MALE; MICROINJECTIONS; MOSAICISM; SEQUENCE TAGGED SITES; SPERMATOZOA; Y CHROMOSOME;

EID: 0030323575     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/2.12.943     Document Type: Article

References (52)

1. Affara, N., Bishop, C., Brown, et al. (1996) Report of the second international workshop on Y chromosome mapping 1995. Cytogenetic. Cell Genet., 73, 33-76.
2. Bardoni, B., Zuffardi, O., Guioli, S. et al. (1991) A deletion map of human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics, 11, 443-451.
3. Chalmers, J., Weissenbach, J., Taylor, K. et al. (1995) Deletion mapping of the Y chromosome. Proceedings of the Second International Workshop On Y chromosome, G00-698-220-12.
4. Cummins, J.M. and Jequier, A.M. (1995) Concerns and recommendations for ICSI treatment. Hum. Reprod. 10 (Suppl. 1), pp. 128-137.
5. de Kretser, D.M. (1995) The potential of intracytoplasmic sperm injection (ICSI) to transmit genetic defects causing male infertility. Reprod. Fertil. Dev. 7, 137-142.
6. Eldridge, F. (1985) (ed.) Cytogenetics of Livestock. AVI Publishing Co. Westport, Conn. pp. 75-89.
7. Graves J.M. (1995) The origin and function of the mammalian Y chromosome and Y-borne genes - an evolving understanding. BioEssays, 17, 311-320.
8. Halnan, C.R.E. (ed.) Cytogenetics of Animals. CAB International, Wallingford, UK, pp. 5-6.
9. Henegariu, O., Hirschmann, P., Kilian, K. et al. (1994) Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis. Andrologia, 26, 97-106.
10. Hoegerman, S.F., Pang, M.G. and Kearns, W.G. (1995) Sex chromosomal abnormalities after intracytoplasmic sperm injection. Lancet, 346, 1095.
11. n repeat variation and selection against extreme expansion in sperm. Am. J. Hum. Genet., 54, 575-585.
12. Jonson, A., Macklin, R. and White, G. (1996) Assisted reproduction: a process ripe for regulations. Women's Health Issues, 6, 117-121.
13. Kent-First, M. (1996) To be or not to be. Alpha (April), 1-2.
14. Kent-First, M., Muallem, A. and Agoulnik, A. (1995) Development of a large highly diagnostic panel of multiplexed sequence tagged sites (STSs) which cover key regions on human Yq: its application in fertile and infertile (azoospermic and oligospermic) populations. Proceedings of the Second International Workshop on Y Chromosome Mapping 1995. G00-698-228.
15. Kobayashi, K., Mizuno, K., Hida, A. et al. (1994) PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum. Mol. Genet., 3, 1965-1967.
16. Komaki, R. Kobayashi, K., Kuroki, Y. et al. (1995) A cosmid contig spanning deletion deletion breakpoints of an azoospermic patient and of the fertile father and novel STSs in the vicinity of the DYS7C locus on Yq. Proceedings of the Second International Workshop on Y-Chromosome. G00-698-207.
17. Kruger, T.F., Acosta, A.A., Simmons, K.F. et al. (1988) Predictive value of abnormal sperm morphology in in vitro fertilization. Fertil. Steril., 49, 112-117.
18. Lewin, B. (1990) Genes. 4th edn. Oxford University Press, New York, pp. 684-686 and 812-818.
19. Liebaers, I., Bonduelle, M., Van Assche, E. et al. (1995) Sex chromosome abnormalities after intracytoplasmic sperm injection. Lancet, 346, 1095.
20. Ma, K., Sharkey, A., Vogt, P. et al. (1992) Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum. Mol. Genet., 1, 29-33.
21. Ma, K., Inglis, J.D., Sharkey, A. et al. (1993) A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell, 75, 1287-1295.
22. Martin-du-Pan, R.C., Sakkas, D., Stalberg, A. et al. (1995) Treatment of male infertility by intracytoplasmic sperm injection - a critical evaluation [In German]. J. Suisse de Med., 125, 1483-1488.
23. McClintock, B. (1933) Chromosome Organization and Genetic Expression. Cold Spring Harbor Symposia on Quantitative Biology, XVI, 13-21.
24. Medvedev, Z.A. (1981) On the immortality of the germ line: genetic and biochemical mechanisms, a review. Mech. Ageing Dev., 17, 331-359.
25. Meschede, D., Lemcke, B., De Geyter, C. et al. (1996) Genetic risk factors among infertile couples treated with ICSI. Hum. Reprod., 11, 158.
26. Moog, U., Coonen, E., Dumoulin, J. et al. (1996) Karyotype of men involved in ICSI programmes: the Maastricht experience, April 1994 to date. Hum. Reprod, 11, 223.
27. Moosani, N., Pattinson, H.A., Carter, M.D. et al. (1995) Chromosomal analysis of sperm from men with idiopathic infertility using sperm karyotyping and fluorescence in situ hybridization. Fertil. Steril., 64, 811-817.
28. Morris, R. and Gleicher, N. (1996) Genetic abnormalities, male infertility, and ICSI. Lancet, 347, 1276.
29. Nagafuchi, S., Namiki, M., Nakahori, Y. et al. (1993) A min deletion of the Y chromosome in men with azoospermia. J. Urol., 150, 1155-1157.
30. Najmabadi, H., Huang, V., Yen, P. et al. (1996) Substantial prevalence of microdeletions in infertile men with idiopathic azoospermia and oligozoospermia detected by a sequence-tagged site-based mapping strategy. J. Clin. Endocrinol. Metab., 81, 1347-1352.
31. Ohno, S. and Tetsuya, Y. (1991) The grammatical rule for all DNA: junk and coding sequences. Electrophoresis, 12, 103-108.
32. Palermo, G.D. Joris, H., Devroey, P. et al. (1992) Pregnancies after intracytoplasmic sperm injection of a single spermatozoon into an oocyte. Lancet, 340, 17-18.
33. Palmiter, R., Wilkie, T., Chen, H. et al. (1984) Transmission distortion and mosaicism in an unusual transgenic mouse pedigree. Cell, 35, 869-877.
34. Peschka, B., Schwanitz, G., van der Ven, K. et al. (1996) Type and frequency of chromosome aberrations in couples undergoing ICSI. Hum. Reprod., 11, 224.
35. Pryor, J., Kent-First, M.G., Muallem, A. et al. (1996) Prospective analysis of Y chromosome microdeletions in 200 consecutive male infertility patients. N. Engl. J. Med., in press.
36. Qureshi, S.J., Ross, A.R., Ma, K., Cooke, H.J. et al. (1996) PCR screening for Y· chromosome microdeletions: a first step towards the diagnosis of genetically determined spermatogenic failure in men. Hum. Reprod., 11, in press.
37. Reijo, R., Lee, T, Salo, P. et al. (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet., 10, 383-393.
38. Reijo, R., Alagappan, R.K., Patrizio, P. et al. (1996) Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet, 341, 1290-1293.
39. Saito, K., Ikeya, K., Kondo, E. et al. (1995) Somatic mosaicism for DMD gene deletion. Am. J. Med. Genet., 56, 80-86.
40. Salo, P., Ignatius, J., Simola, K.O. et al. (1995) Clinical features of 9 males with molecularly defined deletions of the Y chromosome long arm. J. Med. Genet., 32, 711-715.
41. Selva, J., Bergere, M., Prigent, Y. et al. (1996) Importance of genetic screening before ICSI. Hum. Reprod., 11, 224.
42. Silber, S.J., Nagy, Z., Liu, J. et al. (1995) The use of epididymal and testicular sperm for intracytoplasmic sperm injection: the genetic implications. Hum. Reprod., 10, 2031-2043.
43. Stuppia, L., Mastroprimiano, G., Calabrese, G. et al. (1996) Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia. Cytogenet. Cell Genet., 72, 155-158.
44. Tiepolo, L. and Zuffardi, O. (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Genet., 34, 119-124.
45. Vergnaud, G., Page, D.C., Simmler, M.C. et al. (1986) A deletion map of the human Y chromosome bases on DNA hybridization. Am. J. Hum. Genet., 38, 109-124.
46. Van Steirteghem, A.C., Nagy, Z., Joris, H. et al. (1993) Higher success rate by intracytoplasmic sperm injection. Hum, Reprod., 8, 1061-1066.
47. Vogt, P., Chandley, A.C., Hargreave, T.B. et al. (1992) Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatoaenesis, gene. Hum. Genet., 89, 491-496.
48. Vogt, P., Edelmann, A., Kirsch, S. et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet., 5, 933-943.
49. Vollrath, D., Foote, S., Hilton, A. et al. (1992) The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science, 258, 52-59.
50. Woolson, R.F. (1987) Statistical Methods for the Analysis of Biomedical Data. John Wiley and Sons, New York, pp. 215-221.
51. Wyandt, H., Kasprzak, A., Lamb, K. et al. (1982) Human chromosome 2 rodring mosaicism: probable origin by prezygotic breakage and intrachromosomal exchange. Cytogenet. Cell Genet., 33, 222-231.
52. Yen, P.H., Xiao-Miao, L., Siao-Ping, T. et al. (1990) Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell, 61, 603-610.